A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv470264



Internal ID15556823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7832345..7973148hg38UCSC Ensembl
Innerchr12:7984941..8125744hg19UCSC Ensembl
Innerchr12:7876208..8017011hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38140804
hg19140804
hg18140804
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv546875, nssv546877, nssv546892, nssv546884, nssv546879, nssv546886, nssv546885, nssv546878, nssv546880, nssv546881, nssv546889, nssv546891, nssv546888, nssv546882, nssv546890, nssv546883
SamplesHGDP00630, HGDP01281, HGDP01182, HGDP01269, HGDP00717, HGDP01326, HGDP00894, HGDP00694, HGDP00911, HGDP00929, HGDP00066, HGDP01188, HGDP01264, HGDP01321, HGDP01301, HGDP00622
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisWe used the previously validated default quality control criteria, excluding samples with a log R ratio standard deviation of >0.28, a median B allele frequency of >0.55 or <0.45, or a B allele frequency drift of >0.002 (for more details see Wang et al. 2007). As the PennCNV algorithm is more sensitive and specific to CNVs covering greater numbers of SNPs in the HumanHap550 array, use of a minimum number of SNPs in CNV detection increases the reliability of CNV calls (with a consequent reduction in calls per individual). We set 10 SNPs as the minimum detection threshold in the algorithm.
PlatformIllumina HumanHap550 Genotyping BeadChip v3
CommentsSingle-copy duplication
ReferenceJakobsson_et_al_2008
Pubmed ID18288195
Accession Number(s)nsv470264
Frequency
Sample Size443
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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